Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Zfp397'

695949

Institutional Source

Beutler Lab

Gene Symbol

Zfp397

Ensembl Gene

ENSMUSG00000024276

Gene Name

zinc finger protein 397

Synonyms

2810411K16Rik, 6720480F11Rik

MMRRC Submission

068944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24087749-24097730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24089828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 111 (Q111L)

Ref Sequence

ENSEMBL: ENSMUSP00000057253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060762] [ENSMUST00000225682]

AlphaFold

Q7TNK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060762
AA Change: Q111L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: Q111L

Domain	Start	End	E-Value	Type
SCAN	46	158	4e-68	SMART
ZnF_C2H2	278	300	1.58e-3	SMART
ZnF_C2H2	306	328	7.37e-4	SMART
ZnF_C2H2	334	356	1.22e-4	SMART
ZnF_C2H2	362	384	9.58e-3	SMART
ZnF_C2H2	390	412	3.95e-4	SMART
ZnF_C2H2	418	440	1.6e-4	SMART
ZnF_C2H2	446	468	4.54e-4	SMART
ZnF_C2H2	474	496	3.49e-5	SMART
ZnF_C2H2	502	524	2.12e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225682

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,278,157 (GRCm39)	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,541,829 (GRCm39)	T847I	possibly damaging	Het
Acox1	A	T	11: 116,089,173 (GRCm39)	H48Q	probably benign	Het
Adam9	A	G	8: 25,486,795 (GRCm39)	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,511,204 (GRCm39)	Y388H	probably damaging	Het
Arap1	A	T	7: 101,041,090 (GRCm39)	K593*	probably null	Het
Bicc1	G	A	10: 70,781,094 (GRCm39)	T661M	probably damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Celf1	T	A	2: 90,831,426 (GRCm39)	L85H	probably damaging	Het
Cep120	A	T	18: 53,852,318 (GRCm39)	M520K	probably benign	Het
Cfap91	A	G	16: 38,155,960 (GRCm39)	Y88H	possibly damaging	Het
Chd1l	C	T	3: 97,501,356 (GRCm39)	R230H	probably benign	Het
Cyp2c55	A	T	19: 38,995,571 (GRCm39)	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,545,609 (GRCm39)	H167L	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dock4	T	A	12: 40,754,337 (GRCm39)	I442N	probably damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,180,308 (GRCm39)	C1960R	probably damaging	Het
Gm13941	T	C	2: 110,936,324 (GRCm39)	S2G	unknown	Het
Gm37240	T	C	3: 84,417,248 (GRCm39)	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,531,283 (GRCm39)	I350V	unknown	Het
Gtf3c4	A	G	2: 28,724,661 (GRCm39)	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106 (GRCm39)	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,660,689 (GRCm39)	D28G	probably benign	Het
Intu	A	T	3: 40,645,133 (GRCm39)	D508V	probably damaging	Het
Kif28	A	T	1: 179,533,333 (GRCm39)	M604K	probably damaging	Het
Klra6	T	A	6: 129,993,687 (GRCm39)	I195F	possibly damaging	Het
Lhfpl6	G	A	3: 52,950,887 (GRCm39)	V54I	probably benign	Het
Lrpap1	T	C	5: 35,262,923 (GRCm39)	Y38C	probably damaging	Het
Map1b	T	A	13: 99,562,351 (GRCm39)	Q2453L	unknown	Het
Map1b	C	A	13: 99,568,816 (GRCm39)	E1302*	probably null	Het
Map7	C	T	10: 20,122,410 (GRCm39)	R159C	probably benign	Het
Mov10l1	C	T	15: 88,896,361 (GRCm39)	T735I	probably benign	Het
Nfasc	C	A	1: 132,562,544 (GRCm39)	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,839,969 (GRCm39)	V230A	probably benign	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or7e166	T	A	9: 19,624,954 (GRCm39)	M277K	probably benign	Het
Or7e169	T	A	9: 19,757,504 (GRCm39)	N137I	possibly damaging	Het
Orm3	T	C	4: 63,274,809 (GRCm39)	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,631,852 (GRCm39)	V549E	probably damaging	Het
Pclo	T	A	5: 14,731,699 (GRCm39)	S274R		Het
Phactr1	A	G	13: 42,836,178 (GRCm39)	D2G	possibly damaging	Het
Phtf2	G	A	5: 21,008,190 (GRCm39)	R164*	probably null	Het
Prkcq	A	G	2: 11,231,716 (GRCm39)	D13G	probably damaging	Het
Proser1	A	T	3: 53,379,494 (GRCm39)	N156I	probably benign	Het
Prss51	T	C	14: 64,334,958 (GRCm39)	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,546,640 (GRCm39)	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,404,222 (GRCm39)	D681G	possibly damaging	Het
Rigi	T	A	4: 40,208,827 (GRCm39)	M762L	probably damaging	Het
Slc7a12	A	T	3: 14,564,360 (GRCm39)	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,235,312 (GRCm39)	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,057,897 (GRCm39)	A11E	probably benign	Het
Spag1	A	T	15: 36,216,399 (GRCm39)	Y526F	probably damaging	Het
Stim1	A	G	7: 102,084,626 (GRCm39)	H526R	probably benign	Het
Stx1b	T	C	7: 127,414,159 (GRCm39)	K69R	probably benign	Het
Tal1	T	C	4: 114,920,646 (GRCm39)	S107P	probably benign	Het
Tas2r130	T	C	6: 131,606,975 (GRCm39)	I273M	probably damaging	Het
Ttc24	A	T	3: 87,980,295 (GRCm39)	Y135*	probably null	Het
Ttn	G	A	2: 76,583,856 (GRCm39)	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,364,087 (GRCm39)	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwf	T	A	6: 125,542,806 (GRCm39)	I94N		Het
Zan	A	T	5: 137,422,333 (GRCm39)	S2762T	unknown	Het
Zbtb20	A	G	16: 43,430,764 (GRCm39)	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,259,374 (GRCm39)	Y1649H	probably benign	Het
Zfp616	T	A	11: 73,975,825 (GRCm39)	I698N	probably damaging	Het

Other mutations in Zfp397

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01903:Zfp397	APN	18	24,093,086 (GRCm39)	missense	probably benign
ANU22:Zfp397	UTSW	18	24,093,808 (GRCm39)	missense	probably damaging	1.00
R1986:Zfp397	UTSW	18	24,093,108 (GRCm39)	missense	possibly damaging	0.72
R4676:Zfp397	UTSW	18	24,093,854 (GRCm39)	nonsense	probably null
R4824:Zfp397	UTSW	18	24,093,249 (GRCm39)	missense	probably benign	0.02
R5471:Zfp397	UTSW	18	24,093,081 (GRCm39)	missense	probably benign	0.00
R5735:Zfp397	UTSW	18	24,093,249 (GRCm39)	missense	possibly damaging	0.76
R7134:Zfp397	UTSW	18	24,090,122 (GRCm39)	missense	probably benign
R7231:Zfp397	UTSW	18	24,093,415 (GRCm39)	missense	probably damaging	1.00
R7753:Zfp397	UTSW	18	24,090,129 (GRCm39)	missense	probably benign	0.00
R8135:Zfp397	UTSW	18	24,089,564 (GRCm39)	missense	probably damaging	1.00
R8213:Zfp397	UTSW	18	24,093,779 (GRCm39)	missense	probably damaging	1.00
R8251:Zfp397	UTSW	18	24,093,361 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GAGTGCCCAATCTTGCCAAG -3'
(R):5'- GGTAAAGATGTGCTACTGGGAC -3'

Sequencing Primer
(F):5'- CGCCAGCAATTCAGGAAGTTTTG -3'
(R):5'- TGCTACTGGGACATCAAGGTCAC -3'

Posted On

2022-02-07